NEUROGENETICS AND PERSONALIZED MEDICINE: THE FUTURE OF GENETIC THERAPIES FOR NEUROMUSCULAR DISEASES

Abstract

The complex set of illnesses known as neuromuscular diseases (NMDs) is characterized by significant morbidity, loss of motor function, and progressive muscle weakening. Most NMDs are monogenically induced, with very few exceptions, making them prime candidates for genetic intervention. Precision medicine and targeted correction of disease-causing variations are made possible by developments in neurogenetics and molecular therapies, which are transforming clinical care. The data comprised randomized controlled trials, phase I–III studies, and translational preclinical research evaluating gene substitution, antisense oligonucleotides, RNA-targeted therapies, and editing based on Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR). Twenty-seven studies were included, and they covered Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Amyotrophic Lateral Sclerosis (ALS), and rare myopathies. In SMA, gene replacement treatment demonstrated remarkable improvements in motor milestones and survival, whereas exon-skipping and gene editing techniques largely restored dystrophin expression in DMD. Transcripts were suppressed, and functional deterioration was mitigated with antisense therapy for ALS. The majority of safety profiles were favorable, with the most common side effects being immunological responses and transitory hepatotoxicity. Neurogenetic profiling-guided genetic therapies have the potential to significantly alter the course of NMD illness. Future studies must address distributive justice, scalability, and long-term efficacy to provide long-lasting and global therapeutic benefit.